orotic aciduria II

Preferred Label : orotic aciduria II;

MeSH synonym : OMP decarboxylase deficiency; orotidylic decarboxylase deficiency;

Origin ID

C562589;

UMLS CUI

C0268131;

Currated CISMeF NLP mapping
- Hereditary orotic aciduria type 2 [ICD-11 More detail]
- Hereditary orotic aciduria, type 2 (disorder) [SNOMED CT concept]
- hereditary orotic aciduria, type 2 [SNOMED Notion]
MeSH term(s) associated for indexing
- Orotidine-5'-Phosphate decarboxylase [MeSH Descriptor]
- orotate phosphoribosyltransferase [MeSH Descriptor]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- orotic aciduria II [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary orotic aciduria type 2 [ICD-11 More detail]
- Hereditary orotic aciduria, type 2 (disorder) [SNOMED CT concept]
- hereditary orotic aciduria, type 2 [SNOMED Notion]
Validated automatic mappings to NTBT
- Hereditary orotic aciduria [ORDO Disease]